Mutagenetix > Incidental Mutation

Incidental Mutation 'R7912:Atp2c2'

610600

Institutional Source

Beutler Lab

Gene Symbol

Atp2c2

Ensembl Gene

ENSMUSG00000034112

Gene Name

ATPase, Ca++ transporting, type 2C, member 2

Synonyms

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7912 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

119700009-119757717 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 119730178 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 173 (D173V)

Ref Sequence

ENSEMBL: ENSMUSP00000092794 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095171] [ENSMUST00000212454]

AlphaFold

A7L9Z8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000095171
AA Change: D173V

PolyPhen 2 Score 0.812 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000092794
Gene: ENSMUSG00000034112
AA Change: D173V

Domain	Start	End	E-Value	Type
Cation_ATPase_N	54	128	1.27e-12	SMART
Pfam:E1-E2_ATPase	133	366	1.7e-62	PFAM
Pfam:Hydrolase	371	684	5.3e-18	PFAM
Pfam:HAD	374	681	7.4e-11	PFAM
Pfam:Cation_ATPase	437	521	1.1e-17	PFAM
Pfam:Cation_ATPase_C	754	927	1.1e-47	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000212454

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 90 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	A	T	13: 59,742,515	I497K	probably damaging	Het
2310003L06Rik	A	G	5: 87,972,592	T403A	probably benign	Het
4932438A13Rik	C	T	3: 37,007,069	A3309V	probably damaging	Het
5730559C18Rik	A	G	1: 136,227,541	S109P	probably benign	Het
Aco1	T	C	4: 40,184,983	L551S	probably damaging	Het
Acvr1	C	T	2: 58,474,218	V200I	probably damaging	Het
Adam26b	T	A	8: 43,520,208	T586S	probably benign	Het
Ahctf1	T	C	1: 179,753,091	R1849G	probably benign	Het
Alox5	T	A	6: 116,412,536	D590V	probably benign	Het
Anapc5	A	G	5: 122,793,435		probably null	Het
Anln	T	C	9: 22,358,669	E743G	possibly damaging	Het
Anpep	T	C	7: 79,838,426	K496R	probably benign	Het
Aox3	T	A	1: 58,142,696	S281T	probably benign	Het
Arhgef11	C	A	3: 87,733,222	P1258T	probably damaging	Het
Aurka	T	G	2: 172,369,029	D22A	probably benign	Het
B3gat1	A	T	9: 26,755,586	D51V	probably benign	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,888,136		probably benign	Het
BC028528	CACTG	CACTGATTCTGTGGTGACTG	3: 95,888,138		probably benign	Het
BC028528	CTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA	CTGGTTCTGTGGTCAATGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCA	3: 95,888,140		probably benign	Het
BC028528	GGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT	GGTTCTGTGGTCACTTGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACT	3: 95,888,142		probably benign	Het
BC028528	TTC	TTCGGTGGTCACTGGCTC	3: 95,888,144		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCGCTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,888,154		probably benign	Het
BC028528	TGGTTCTGTGGTCAC	TGGTTCTGTGGTCACGGGTTCTGTGGTCAC	3: 95,888,171		probably benign	Het
Bcas3	G	A	11: 85,371,128	G96S	probably damaging	Het
C2cd4d	T	A	3: 94,363,553	V42D	probably damaging	Het
Ccdc127	T	C	13: 74,357,032	L233P	probably damaging	Het
Cdc42bpa	A	G	1: 180,094,013	K573E	probably damaging	Het
Cend1	T	C	7: 141,427,631	D92G	probably damaging	Het
Crb1	T	C	1: 139,243,171	D827G	probably damaging	Het
Cyld	G	T	8: 88,734,897	C654F	probably damaging	Het
Fastkd5	C	T	2: 130,616,637	G11D	probably damaging	Het
Foxj3	A	T	4: 119,620,055	N354I	possibly damaging	Het
Gimap8	G	T	6: 48,651,065	C252F	probably benign	Het
Glra1	T	C	11: 55,520,995	Y329C	probably damaging	Het
Gm10330	G	A	12: 23,779,979	P67L	probably benign	Het
Gpm6a	T	C	8: 55,055,434	I226T	possibly damaging	Het
Gstt2	A	G	10: 75,832,584	F121S	probably benign	Het
Hjurp	TCTGGGAGGGCTTGCTCCGGGGGCAGTGTGTCCTGTTCTTGTGCAGCCCCTGCT	TCT	1: 88,266,278		probably benign	Het
Hmcn2	T	C	2: 31,420,299	F3302L	probably benign	Het
Hormad2	T	C	11: 4,408,841	T189A	probably damaging	Het
Hps5	A	T	7: 46,769,402	S815T	probably benign	Het
Hydin	G	T	8: 110,555,607	R3113L	possibly damaging	Het
Inpp5f	T	A	7: 128,692,313	C698S	probably benign	Het
Irs1	T	G	1: 82,289,884	M204L	probably benign	Het
Itfg1	T	C	8: 85,764,280	D340G	probably damaging	Het
Itm2c	T	A	1: 85,905,311	I122N	probably damaging	Het
Lamp3	T	A	16: 19,655,497	T376S	probably damaging	Het
Lrba	T	A	3: 86,715,565	I2418N	probably damaging	Het
Lrcol1	T	A	5: 110,354,849	V161D	probably damaging	Het
Lrp2	T	A	2: 69,428,672	Q4558L	probably benign	Het
Lrrfip2	A	T	9: 111,205,768	Q175L	probably damaging	Het
Mib1	T	G	18: 10,778,187	S572R	probably damaging	Het
Mis18bp1	A	T	12: 65,152,758	D456E	possibly damaging	Het
Mlh1	T	A	9: 111,261,513	T116S	possibly damaging	Het
Mpp4	T	C	1: 59,121,362	N594S	probably damaging	Het
Nbas	A	G	12: 13,405,457	E1224G	possibly damaging	Het
Neb	T	C	2: 52,220,985	D163G	possibly damaging	Het
Nectin4	T	C	1: 171,380,373	V111A	possibly damaging	Het
Nfatc2ip	G	A	7: 126,390,445	R256*	probably null	Het
Nlgn2	G	A	11: 69,825,934	R594C	probably damaging	Het
Nufip1	A	G	14: 76,115,002	S198G	possibly damaging	Het
Olfr134	T	C	17: 38,175,267	F61S	probably damaging	Het
Olfr205	C	T	16: 59,329,243	D89N	possibly damaging	Het
Olfr281	C	T	15: 98,456,693	H128Y	probably benign	Het
Olfr913	T	C	9: 38,595,150	F310L	probably benign	Het
Pcdhga8	G	A	18: 37,726,843	M317I	probably benign	Het
Phactr1	A	T	13: 42,709,763	I55L	probably benign	Het
Prl3c1	G	A	13: 27,199,384	R31Q	probably benign	Het
Prss55	A	T	14: 64,081,731	F59Y	possibly damaging	Het
Ptprb	T	C	10: 116,322,487	W488R	probably damaging	Het
Qrich2	GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC	GAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGCCCCAGGCTGCAACAAACCAGGCTGATCTGTCCCAGGCTGCAACAAACCAGGCTGATC	11: 116,455,782		probably benign	Het
Ros1	G	T	10: 52,168,695	T172K	probably damaging	Het
Rtel1	C	T	2: 181,356,076	R1206W	possibly damaging	Het
Slf2	A	T	19: 44,942,243	K586N	probably damaging	Het
Smc2	T	A	4: 52,450,854	M224K	probably benign	Het
Spinkl	T	C	18: 44,166,649	Y83C	probably damaging	Het
Srgap1	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	CTACCTCCTCTTAGGGACCACGCCCACCCCCTCCCAGGGACCATGCTTACCTCCTC	10: 121,853,553		probably benign	Het
St13	T	C	15: 81,399,518	E26G	possibly damaging	Het
Teddm3	T	A	16: 21,152,949	Q290L	probably benign	Het
Tfec	C	A	6: 16,840,468		probably null	Het
Trank1	C	A	9: 111,391,528	D2444E	probably benign	Het
Ttc17	T	A	2: 94,378,821	N96I	probably damaging	Het
Ttn	T	C	2: 76,729,786	T29424A	possibly damaging	Het
Vmn1r68	G	A	7: 10,527,310	T287I	probably benign	Het
Vmn2r52	C	A	7: 10,162,950	V532L	probably benign	Het
Vmn2r92	A	T	17: 18,184,708	T705S	possibly damaging	Het
Vps13d	T	C	4: 145,173,127	D200G		Het
Wdr48	G	A	9: 119,904,339	C84Y	probably damaging	Het
Zcchc6	C	A	13: 59,799,005	Q1003H	probably damaging	Het
Zscan25	T	A	5: 145,290,511	H328Q	probably benign	Het

Other mutations in Atp2c2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00966:Atp2c2	APN	8	119745590	missense	probably benign
IGL01624:Atp2c2	APN	8	119757450	missense	probably benign	0.00
IGL02133:Atp2c2	APN	8	119754335	missense	probably benign	0.00
IGL02221:Atp2c2	APN	8	119744334	missense	probably damaging	1.00
IGL02606:Atp2c2	APN	8	119730274	missense	probably benign
IGL02657:Atp2c2	APN	8	119753032	missense	probably damaging	1.00
IGL02839:Atp2c2	APN	8	119749120	missense	possibly damaging	0.85
IGL03122:Atp2c2	APN	8	119742675	missense	possibly damaging	0.77
R0031:Atp2c2	UTSW	8	119749062	missense	probably benign	0.15
R0372:Atp2c2	UTSW	8	119757441	missense	probably benign
R0502:Atp2c2	UTSW	8	119734577	missense	probably null	0.99
R0503:Atp2c2	UTSW	8	119734577	missense	probably null	0.99
R0584:Atp2c2	UTSW	8	119738418	missense	probably benign	0.01
R1225:Atp2c2	UTSW	8	119735245	missense	probably damaging	1.00
R1580:Atp2c2	UTSW	8	119752987	missense	probably benign	0.00
R1620:Atp2c2	UTSW	8	119749126	missense	probably benign
R1638:Atp2c2	UTSW	8	119756003	missense	possibly damaging	0.82
R1745:Atp2c2	UTSW	8	119725094	missense	probably benign	0.02
R1746:Atp2c2	UTSW	8	119734443	unclassified	probably benign
R1907:Atp2c2	UTSW	8	119749876	splice site	probably benign
R2104:Atp2c2	UTSW	8	119749845	missense	probably benign
R2151:Atp2c2	UTSW	8	119756102	missense	probably benign
R2152:Atp2c2	UTSW	8	119756102	missense	probably benign
R2154:Atp2c2	UTSW	8	119756102	missense	probably benign
R2207:Atp2c2	UTSW	8	119748309	missense	probably damaging	1.00
R3874:Atp2c2	UTSW	8	119735296	missense	possibly damaging	0.74
R3912:Atp2c2	UTSW	8	119721276	missense	probably damaging	1.00
R4093:Atp2c2	UTSW	8	119749871	critical splice donor site	probably null
R4782:Atp2c2	UTSW	8	119749152	missense	probably damaging	0.97
R4801:Atp2c2	UTSW	8	119747687	missense	probably damaging	1.00
R4973:Atp2c2	UTSW	8	119754263	missense	probably benign	0.00
R5485:Atp2c2	UTSW	8	119753062	critical splice donor site	probably null
R5978:Atp2c2	UTSW	8	119749875	splice site	probably null
R6377:Atp2c2	UTSW	8	119726354	missense	probably benign	0.10
R6613:Atp2c2	UTSW	8	119756021	missense	probably damaging	0.99
R6765:Atp2c2	UTSW	8	119753017	missense	probably damaging	1.00
R6836:Atp2c2	UTSW	8	119734415	missense	probably damaging	1.00
R6963:Atp2c2	UTSW	8	119730267	nonsense	probably null
R7220:Atp2c2	UTSW	8	119745561	missense	probably benign	0.00
R7238:Atp2c2	UTSW	8	119742421	missense	possibly damaging	0.73
R7373:Atp2c2	UTSW	8	119730252	missense	probably benign	0.02
R7438:Atp2c2	UTSW	8	119748197	missense	probably damaging	1.00
R7573:Atp2c2	UTSW	8	119751269	missense	probably damaging	1.00
R7677:Atp2c2	UTSW	8	119748176	missense	probably benign	0.00
R7737:Atp2c2	UTSW	8	119742395	missense	probably damaging	1.00
R8821:Atp2c2	UTSW	8	119749294	splice site	probably null
R8831:Atp2c2	UTSW	8	119749294	splice site	probably null
R9200:Atp2c2	UTSW	8	119748260	nonsense	probably null
R9211:Atp2c2	UTSW	8	119719293	missense	probably benign
R9246:Atp2c2	UTSW	8	119730250	missense	probably damaging	1.00
R9285:Atp2c2	UTSW	8	119738402	missense	probably benign	0.00
RF004:Atp2c2	UTSW	8	119752822	missense	probably damaging	1.00
RF012:Atp2c2	UTSW	8	119745514	missense	possibly damaging	0.91
Z1177:Atp2c2	UTSW	8	119734385	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACCCAGGGTCTTTCAGTAGC -3'
(R):5'- AGATGTGGGGTCTTATGCCC -3'

Sequencing Primer
(F):5'- CCTTACAGCTAGATCTCATGGAGG -3'
(R):5'- GGTCTTATGCCCGCACTG -3'

Posted On

2019-12-20